Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genome Build: GRCh37 (105)
Position: Chr14:73659428 G>A
dbSNP ID: rs63749880
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGA to AGA
No Available References
- Marui W, Iseki E, Sugiyama N, Matsumura T, Suzuki K, Odawara T, Hino H, Kosaka K. [A Japanese family with familial Alzheimer's disease associated with presenilin 1 mutation: relationship between younger age of onset and ApoE gene polymorphism]. No To Shinkei. 2003 Apr;55(4):349-53. PubMed.
- Sugiyama N, Suzuki K, Matsumura T, Kawanishi C, Onishi H, Yamada Y, Iseki E, Kosaka K. A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. Hum Mutat. 1999;14(1):90. PubMed.